✦ LIBER ✦

Maple syrup urine disease: Mutation analysis in Turkish patients

✍ Scribed by A. Dursun; M. Henneke; K. Özgül; J. Gartner; T. Coşkun; A. Tokatli; H. S. Kalkanoğlu; M. Demirkol; U. Wendel; İ. Özalp

Book ID: 110340132
Publisher: Springer
Year: 2002
Tongue: English
Weight: 108 KB
Volume: 25
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1015668425004

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutational spectrum of maple syrup urine

Mutational spectrum of maple syrup urine disease in Spain

✍ Pilar Rodríguez-Pombo; Rosa Navarrete; Begoña Merinero; Paulino Gómez-Puertas; M 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 496 KB

Mutations in any of the three different genes BCKDHA, BCKDHB, and DBT encoding for the E1alpha, E1beta, and E2 catalytic components of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex can cause maple syrup urine disease (MSUD). The disease presents heterogeneous clinical and molecular

Maple syrup urine disease (MSUD): Screen

Maple syrup urine disease (MSUD): Screening for known mutations in Italian patients

✍ T. Parrella; S. Surrey; A. Iolascon; M. Sartore; R. Heidenreich; G. Diamond; A. 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 710 KB

Ophthalmoplegia in maple syrup urine dis

Ophthalmoplegia in maple syrup urine disease

✍ David S. Zee; John M. Freeman; Neil A. Holtzman 📂 Article 📅 1974 🏛 Elsevier Science 🌐 English ⚖ 289 KB

Ophthalmoplegia in maple syrup urine dis

Ophthalmoplegia in maple syrup urine disease

✍ Balaji Gupta; Darrel Waggoner 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 62 KB

Leucine turnover in maple syrup urine di

Leucine turnover in maple syrup urine disease

✍ J. V. Leonard; A. M. Umpleby; E. M. Naughten; M. A. Boroujerdi; P. H. Sonksen 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 231 KB

Imaging in Neonatal Maple Syrup Urine Di

Imaging in Neonatal Maple Syrup Urine Disease

✍ Puneet Jain, Suvasini Sharma, Naveen Sankhyan, Neerja Gupta, Madhulika Kabra, Sh 📂 Article 📅 2012 🏛 Springer-Verlag 🌐 English ⚖ 165 KB